Top Tweets for #APECED
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. https://t.co/guj96P89l9
By applying whole-exome & whole-genome sequencing to blood samples from individuals with the deadly autoimmune disorder #APECED, researchers have identified a causal gene variant & learned how it contributes to the condition. In @ScienceTM:
https://t.co/H4yofOfr5x
@IivoHetemaki @jsarkkine et al. found a negative association between #MAIT freq & plasma IFN-g in #APECED. Again this #raredisease can teach us something more general, now about these innate-Ts - they’re depleted in chronic inflammation whatever the cause. @APSType1 @TRIMMprogram
A screening study of #APECED patients by researchers at @NIH identifies a genetic variant that can cause the #autoimmune disease through cryptic splicing of the AIRE gene in those of Puerto Rican descent. https://t.co/FFKTzarBQ3
We found in #APECED #APS1 patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol! @IivoHetemaki
Th1 immune dysregulation might cause reduced MAITs also in many other #inbornerrorofimmunity.
https://t.co/00GehRQs5d…
We found in #APECED patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol!
Heightened type 1 immune dysregulation might be behind MAIT reduction also in many other #inbornerrorofimmunity.
https://t.co/lAc5y1FI04
The final manuscript of my PhD thesis is now available in @jacionline!
We studied an #inbornerrorofimmunity #APECED and found dysregulated germinal center reaction with expanded follicular T helper cells to underlie B cell pathology in the disease. ⛓️1/12
https://t.co/hBeQ1YEvY6
📌 Components of #autoimmune #polyendocrine syndromes (#APS)
Ref. Endocr Connect. 2023 Dec 1:EC-23-0088
#MedTwitter #EndoTwitter #MedEd #APECED
Delighted to have welcomed Professor Geraldo Passos from the University of São Paulo, Brazil, in our team for 2 weeks 🇧🇷🇫🇷
#Thymus #APECED #AIREgene #Tcells #Immunology @CIML_Immunology
Our Running for Rare...Anywhere! program lets you participate in any athletic activity while raising funds for #RareDiseases - like Rebecca, a #ToughMudder with #APS1/#APECED who gets care from @ChildrensPhila, a NORD #RareDisease Center of Excellence ➡️ https://t.co/UnPyJCeaCz
#DidYouKnow that APS Type 1 is inherited in an autosomal recessive pattern? That means that the parents of APS Type 1 patients each cary one copy of the mutated gene, but typically do not show signs of signs and symptoms of the condition. #genetics #raredisease #APECED
We are thrilled to have Dr. Alessandra Fierabracci as a panellist at the 5th International Symposium on APS Type 1! Register now! https://t.co/wGMwvGZcup #APSType1 #APECED #RareDisease
Cientistas da @usponline e do @CTIRenatoArcher elucidam mecanismo de mutação #genética causadora da #Apeced, doença #autoimune rara. Descrita em @FrontImmunol, a descoberta pode contribuir para orientar, no futuro, o desenvolvimento de terapias gênicas. https://t.co/d4wTfD7vkw
Does your research impact people with autoimmune polyglandular syndrome type 1 (#APS1 aka #APECED)? Check out this grant opportunity from @RareDiseases and @APSType1: https://t.co/PiocTXz6Cg
#DidYouKnow the Orphan Drug Act (ODA) was signed into law in 1983? From the patient perspective, the #ODA has been extremely successful, encouraging research and development of #orphandrugs – products for diseases that would otherwise be ignored. #raredisease #APSType1 #APECED
#DidYouKnow that APS Type 1 is inherited in an autosomal recessive pattern? That means that the parents of APS Type 1 patients each carry one copy of the mutated gene, but typically do not show signs of signs and symptoms of the condition. #genetics #raredisease #APECED
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